A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612399



Internal ID16399808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675712..136835409hg38UCSC Ensembl
Innerchr8:137687955..137847652hg19UCSC Ensembl
Innerchr8:137757137..137916834hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38159698
hg19159698
hg18159698
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12343n54
Supporting Variantsnssv1122269, nssv1122270, nssv1156174, nssv1156173, nssv1122268
Samples1780862274_A, NINDS_82
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612399
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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